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A Novel Mutation Adjacent to the Bth Mouse Mutation in the TMC1 Gene Makes This Mouse an Excellent Model of Human Deafness at the DFNA36 Locus

Overview
Journal Clin Genet
Specialty Genetics
Date 2010 May 8
PMID 20447146
Citations 19
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References
1.
Kurima K, Peters L, Yang Y, Riazuddin S, Ahmed Z, Naz S . Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet. 2002; 30(3):277-84. DOI: 10.1038/ng842. View

2.
Tlili A, Ben Rebeh I, Aifa-Hmani M, Dhouib H, Moalla J, Tlili-Chouchene J . TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. Audiol Neurootol. 2008; 13(4):213-8. DOI: 10.1159/000115430. View

3.
Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O . Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet. 2008; 74(3):223-32. PMC: 4732719. DOI: 10.1111/j.1399-0004.2008.01053.x. View

4.
Hilgert N, Monahan K, Kurima K, Li C, Friedman R, Griffith A . Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. J Hum Genet. 2009; 54(3):188-90. PMC: 3431155. DOI: 10.1038/jhg.2009.1. View

5.
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers F, Cremers C . Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2005; 26(6):591. DOI: 10.1002/humu.9384. View